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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 17365

FusionGeneSummary for IL1RAPL1_IL1RAPL1

check button Fusion gene summary
Fusion gene informationFusion gene name: IL1RAPL1_IL1RAPL1
Fusion gene ID: 17365
HgeneTgene
Gene symbol

IL1RAPL1

IL1RAPL1

Gene ID

11141

11141

Gene nameinterleukin 1 receptor accessory protein like 1interleukin 1 receptor accessory protein like 1
SynonymsIL-1-RAPL-1|IL-1RAPL-1|IL1R8|IL1RAPL|IL1RAPL-1|MRX10|MRX21|MRX34|OPHN4|TIGIRR-2IL-1-RAPL-1|IL-1RAPL-1|IL1R8|IL1RAPL|IL1RAPL-1|MRX10|MRX21|MRX34|OPHN4|TIGIRR-2
Cytomap

Xp21.3-p21.2

Xp21.3-p21.2

Type of geneprotein-codingprotein-coding
Descriptioninterleukin-1 receptor accessory protein-like 1X-linked interleukin-1 receptor accessory protein-like 1interleukin 1 receptor-8mental retardation, X-linked 10oligophrenin-4three immunoglobulin domain-containing IL-1 receptor-related 2interleukin-1 receptor accessory protein-like 1X-linked interleukin-1 receptor accessory protein-like 1interleukin 1 receptor-8mental retardation, X-linked 10oligophrenin-4three immunoglobulin domain-containing IL-1 receptor-related 2
Modification date2018051920180519
UniProtAcc

Q9NZN1

Q9NZN1

Ensembl transtripts involved in fusion geneENST00000378993, ENST00000302196, 
ENST00000378993, ENST00000302196, 
Fusion gene scores* DoF score4 X 4 X 3=483 X 3 X 2=18
# samples 43
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: IL1RAPL1 [Title/Abstract] AND IL1RAPL1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneIL1RAPL1

GO:0045920

negative regulation of exocytosis

12783849

TgeneIL1RAPL1

GO:0045920

negative regulation of exocytosis

12783849


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1DB359358IL1RAPL1chrX

29704923

-IL1RAPL1chrX

29714986

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000378993ENST00000378993IL1RAPL1chrX

29704923

-IL1RAPL1chrX

29714986

-
intron-intronENST00000378993ENST00000302196IL1RAPL1chrX

29704923

-IL1RAPL1chrX

29714986

-
intron-intronENST00000302196ENST00000378993IL1RAPL1chrX

29704923

-IL1RAPL1chrX

29714986

-
intron-intronENST00000302196ENST00000302196IL1RAPL1chrX

29704923

-IL1RAPL1chrX

29714986

-

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FusionProtFeatures for IL1RAPL1_IL1RAPL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IL1RAPL1

Q9NZN1

IL1RAPL1

Q9NZN1

May regulate secretion and presynaptic differentiationthrough inhibition of the activity of N-type voltage-gated calciumchannel (PubMed:12783849). May activate the MAP kinase JNK(PubMed:15123616). Plays a role in neurite outgrowth (Bysimilarity). During dendritic spine formation can bidirectionallyinduce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity).{ECO:0000250|UniProtKB:P59823, ECO:0000250|UniProtKB:P59824,ECO:0000269|PubMed:12783849, ECO:0000269|PubMed:15123616}. May regulate secretion and presynaptic differentiationthrough inhibition of the activity of N-type voltage-gated calciumchannel (PubMed:12783849). May activate the MAP kinase JNK(PubMed:15123616). Plays a role in neurite outgrowth (Bysimilarity). During dendritic spine formation can bidirectionallyinduce pre- and post-synaptic differentiation of neurons by trans-synaptically binding to PTPRD (By similarity).{ECO:0000250|UniProtKB:P59823, ECO:0000250|UniProtKB:P59824,ECO:0000269|PubMed:12783849, ECO:0000269|PubMed:15123616}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for IL1RAPL1_IL1RAPL1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for IL1RAPL1_IL1RAPL1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for IL1RAPL1_IL1RAPL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for IL1RAPL1_IL1RAPL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIL1RAPL1C0004352Autistic Disorder2CTD_human;HPO
HgeneIL1RAPL1C0025202melanoma1CTD_human
HgeneIL1RAPL1C0809983Schizophrenia and related disorders1PSYGENET
HgeneIL1RAPL1C1136249Mental Retardation, X-Linked1CTD_human
HgeneIL1RAPL1C1510586Autism Spectrum Disorders1CTD_human
TgeneIL1RAPL1C0004352Autistic Disorder2CTD_human;HPO
TgeneIL1RAPL1C0025202melanoma1CTD_human
TgeneIL1RAPL1C0809983Schizophrenia and related disorders1PSYGENET
TgeneIL1RAPL1C1136249Mental Retardation, X-Linked1CTD_human
TgeneIL1RAPL1C1510586Autism Spectrum Disorders1CTD_human